All transcript variants in gene MSH2


Criteria used for classification are available from here. We encourage submission of relevant unpublished information to assist in the
classification of variants via LOVD or this template which can be emailed to the curator.
Information The variants shown are described using the NM_000251.2 transcript reference sequence.

5 entries on 1 page. Showing entries 1 - 5.
Legend  

Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
+/. _1 c.-19488_-14580del pathogenic r.[NM_002354.2:r.-358_858::212_*279, NM_002354.2:r.-358_858::-4237_-4127ins212_*279] p.? g.47610843_47615751del g.47383704_47388612del - - EPCAM_000001 4909 bp deletion detected using MSH6 MLPA, unrelated families, shared founder haplotype; not in 194 control chromosomes; fusion transcript EPCAM/MSH2; MSH2 variants in tumor PubMed: Ligtenberg 2009 - - Germline yes - - 0 - Johan den Dunnen
+/. _1 c.-19488_-14580del pathogenic r.? p.? g.47610843_47615751del g.47383704_47388612del - - EPCAM_000001 4909 bp deleteion detected using MSH6 MLPA, unrelated families, shared founder haplotype; not in 194 control chromosomes PubMed: Ligtenberg 2009 - - Germline yes - - 0 - Johan den Dunnen
+/. _1 c.-19488_-14580del pathogenic r.? p.? g.47610843_47615751del g.47383704_47388612del c.859-1462_*1999del - EPCAM_000001 4909 bp deleteion detected using MSH6 MLPA, unrelated families, shared founder haplotype; not in 194 control chromosomes; wt allele lost in tumor PubMed: Ligtenberg 2009 - - Germline - - - 0 - Johan den Dunnen
+/. _1 c.-19488_-14580del pathogenic r.? p.? g.47610843_47615751del g.47383704_47388612del c.859-1462_*1999del - EPCAM_000001 4909 bp deleteion detected using MSH6 MLPA, unrelated families, shared founder haplotype; not in 194 control chromosomes PubMed: Ligtenberg 2009 - - Germline - - - 0 - Johan den Dunnen
+/. _1 c.-19488_-14580del pathogenic r.? p.? g.47610843_47615751del g.47383704_47388612del MSH2:c.373C>T + EPCAM:c.859-1462_*1999del - EPCAM_000001 - Mensenkamp and Ligtenberg - - Germline - - - 0 - INSiGHT group
Legend